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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital myasthenic syndrome 4C
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Accession:DOID:0110679 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Id;   CMS1D;   CMS4C;   FIM1;   Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency;   congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency;   congenital myasthenic syndrome type Id;   familial infantile myasthenia 1;   postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency
 related_synonym: FIM1 (formerly);   familial infantile myasthenia 1 (formerly)
 primary_id: MESH:C536090
 alt_id: OMIM:608931
 xref: NCI:C174216
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 4C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by OMIM:608931
OMIM
ClinVar
PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9668239 PMID:10211467 PMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:12417530 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16550914 PMID:17878953 PMID:19064877 PMID:19544078 PMID:21175599 PMID:21940170 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27634344 PMID:28024842 PMID:28492532 PMID:29054425 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency ClinVar PMID:8755487 PMID:9158150 PMID:11030414 PMID:12417530 PMID:16087917 PMID:17878953 PMID:19544078 PMID:21940170 PMID:24033266 PMID:24295813 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:25695962 PMID:25741868 PMID:25900532 PMID:28492532 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
ClinVar PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16945936 PMID:17190963 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    physical disorder 2486
      congenital myasthenic syndrome 89
        congenital myasthenic syndrome 4C 7
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              neuromuscular junction disease 116
                congenital myasthenic syndrome 89
                  congenital myasthenic syndrome 4C 7
paths to the root